Pendred syndrome

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Classification according to ICD-10
E07.1 Dyshormogenic goiter
Familial dyshormogenic goiter
Pendred syndrome
ICD-10 online (WHO version 2019)

The Pendred syndrome is an autosomal recessive inherited disease . Characteristic is the presence of (mostly severe) sensorineural hearing loss, hypoplasia of the cochlea , as well as a goiter with iodine misuse, later often an underactive thyroid ( hypothyroidism ), while in early childhood often normal thyroid function ( euthyroidism ) present.

The Pendred syndrome was first described in 1896 by Vaughan Pendred (1869-1946).

Pendred syndrome lacks thyroid peroxidase , an enzyme in the iodine metabolism of the thyroid gland. There is a genetic linkage between the Pendred syndrome and Pendrin gene (PDS), which on chromosome 7 is located (7q31) and an iodine transport protein coded.

Epidemiology

Pendred syndrome is the most common hereditary hearing disorder and the most common syndromic hearing disorder, accounting for around five percent of cases . Four to ten percent of all children with congenital deafness suffer from Pendred syndrome, although the frequency varies from region to region (British Isles 1: 15,000, Scandinavia 1: 100,000).

In 2002, the German Central Register of Childhood Hearing Disorders registered fifteen confirmed cases and two suspected cases, corresponding to a relative frequency of 0.33%.

Diagnosis and differential diagnosis

The diagnosis is usually made on the basis of the medical history and family history, as well as the clinical picture . The method of choice for detecting Pendred syndrome is the perchlorate depletion test . Acquired hypothyroidism, Refetoff-De-Wind-De-Groot syndrome and Newell-Diddle syndrome must also be considered in the differential diagnosis of hearing loss and goiter .

literature

Web links

Individual evidence

  1. ^ Vaughan Pendred: Deaf-mutism and goitre . In: The Lancet . tape 148 , no. 3808 , 1896, ISSN  0023-7507 , p. 532 , doi : 10.1016 / S0140-6736 (01) 74403-0 .